Zusammenfassung
Patients with disorders of intracellular Cbl metabolism typically have serum Cbl levels within the reference range, although levels may be reduced in the cblF and cblJ disorders. Homocystinuria (Hcy) and hyperhomocysteinaemia, as well as megaloblastic anaemia and neurological disorders, are major clinical findings in patients with disorders of Cbl absorption and transport, as well as those with defects of cellular metabolism that affect synthesis of MeCbl. Inherited disorders of Cbl metabolism are divided into those involving absorption and transport and those involving intracellular utilisation. Severe B12 deficiency in newborn infants, which may occur in breast fed infants born to vegan mothers or those with sub-clinical pernicious anaemia, can result in a disorder that ranges from an elevation in serum concentration of propionylcarnitine detected by newborn screening, to one presenting with severe neonatal encephalopathy.
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Watkins, D., Rosenblatt, D.S., Fowler, B. (2016). Disorders of Cobalamin and Folate Transport and Metabolism. In: Saudubray, JM., Baumgartner, M., Walter, J. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49771-5_27
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